Y chromosome microdeletions in idiopathic azoospermia and non-mosaic type of Klinefelter syndrome

Exp Mol Med. 2000 Dec 31;32(4):231-4. doi: 10.1038/emm.2000.38.

Abstract

The objective of this study was to elucidate the cause of the spermatogenic defect in idiopathic azoospermia and non-mosaic type of Klinefelter syndrome. Genomic DNAs from 9 cases of Korean idiopathic azoospermia and 6 of Korean non-mosaic type of Klinefelter syndrome were used for the detection of Y chromosome microdeletions by polymerase chain reaction using 60 primers. Microdeletions of the Y chromosome were found in 1 of 9 (11.1%) patients with idiopathic azoospermia, whereas none was deleted in non-mosaic type of Klinefelter syndrome. This result suggests that Y chromosome microdeletions could be one of the etiologic factors in idiopathic azoospermia.

MeSH terms

  • Gene Dosage
  • Humans
  • Klinefelter Syndrome / classification
  • Klinefelter Syndrome / genetics*
  • Male
  • Oligospermia / classification
  • Oligospermia / genetics*
  • Polymerase Chain Reaction
  • Sequence Deletion*
  • Sequence Tagged Sites
  • Spermatogenesis
  • X Chromosome / genetics
  • Y Chromosome / genetics*